Variant report

Variant	esv3356431
Chromosome Location	chr2:76697346-76714281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 363 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149574129	chr2:76697381-76697382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117029261	chr2:76697390-76697391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112349689	chr2:76697409-76697410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1921241	chr2:76697425-76697426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545916349	chr2:76697439-76697440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564001343	chr2:76697485-76697486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143231439	chr2:76697505-76697506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547688759	chr2:76697512-76697513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148385209	chr2:76697514-76697515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142222076	chr2:76697560-76697561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73938120	chr2:76697562-76697563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569750621	chr2:76697627-76697628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537026280	chr2:76697839-76697840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184089113	chr2:76697856-76697857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116469073	chr2:76697878-76697879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535078909	chr2:76697947-76697948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58642088	chr2:76697949-76697950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574683328	chr2:76697978-76697979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542183356	chr2:76697993-76697994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367637668	chr2:76698018-76698019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11126524	chr2:76698034-76698035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs375371962	chr2:76698048-76698049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146371570	chr2:76698051-76698052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11680215	chr2:76698079-76698080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34763136	chr2:76698080-76698081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs139661259	chr2:76698091-76698092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140076395	chr2:76698106-76698107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374980298	chr2:76698107-76698108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540275081	chr2:76698111-76698112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142469527	chr2:76698131-76698132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17012738	chr2:76698142-76698143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73938121	chr2:76698161-76698162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570036622	chr2:76698164-76698165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531204339	chr2:76698197-76698198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36005302	chr2:76698240-76698241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570781102	chr2:76698244-76698245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534854841	chr2:76698272-76698273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35412086	chr2:76698277-76698278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568294173	chr2:76698278-76698279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535621318	chr2:76698305-76698306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557161340	chr2:76698329-76698330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11126525	chr2:76698353-76698354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576735186	chr2:76698377-76698378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187693276	chr2:76698421-76698422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373502163	chr2:76698482-76698483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539989909	chr2:76698493-76698494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139514116	chr2:76698522-76698523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573374682	chr2:76698524-76698525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116079000	chr2:76698584-76698585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149677159	chr2:76698606-76698607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76694800-76705800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:76698800-76699000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:76700200-76701200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:76700600-76701400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:76701200-76705400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:76704800-76705000	Enhancers	Fetal Muscle Leg	muscle
7	chr2:76704800-76706600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:76705000-76706000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:76705000-76706200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:76705200-76706000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:76705400-76706200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:76705400-76706200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:76705600-76706000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:76705600-76706400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:76705800-76706000	Enhancers	Fetal Muscle Leg	muscle
16	chr2:76705800-76706200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:76707200-76707400	Enhancers	Fetal Muscle Leg	muscle

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